ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) (rs144720929)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232880 SCV000290089 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000441955 SCV000532670 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000441955 SCV000864129 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000441955 SCV000967034 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln1534Gln in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.50% (147/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs144720929).

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